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Cellosaurus SDQLCHi039-A (CVCL_A4XG)

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Cell line name SDQLCHi039-A
Accession CVCL_A4XG
Resource Identification Initiative To cite this cell line use: SDQLCHi039-A (RRID:CVCL_A4XG)
Comments From: Qilu Children's Hospital of Shandong University; Jinan; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:1133; BTK; Simple; p.Tyr510_Glu513delGluTyrLeuGluinsGlu (c.1530_1538delATACCTGGA); Zygosity=Hemizygous (PubMed=33453577).
Disease X-linked agammaglobulinemia (NCIt: C3822)
X-linked agammaglobulinemia (ORDO: Orphanet_47)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 3Y5M
Category Induced pluripotent stem cell
Publications

PubMed=33453577; DOI=10.1016/j.scr.2021.102165
Ning Liu, Xiao-Meng Yang, Su-Lan Wang, Rui Dong, Yue Li, Yu-Qiang Lv, Yi Liu, Zhong-Tao Gai;
PBMC-derived integration-free iPSCs line SDQLCHi039-A from a patient with X-linked agammaglobulinemia carrying a novel 9-bp in-frame deletion in BTK gene.
Stem Cell Res. 51:102165-102165(2021)

Cross-references
Cell line databases/resources hPSCreg; SDQLCHi039-A
Encyclopedic resources Wikidata; Q107116893
Entry history
Entry creation20-May-2021
Last entry update19-Dec-2024
Version number5